Variant report

Variant	esv3524027
Chromosome Location	chr4:69597213-69599311
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536376252	chr4:69597215-69597216	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370882025	chr4:69597218-69597219	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528957720	chr4:69597232-69597233	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534969174	chr4:69597233-69597234	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190496428	chr4:69597245-69597246	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373650731	chr4:69597259-69597260	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568644458	chr4:69597290-69597291	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531161224	chr4:69597293-69597294	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12640816	chr4:69597296-69597297	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191362888	chr4:69597300-69597301	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558498339	chr4:69597369-69597370	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183934817	chr4:69597419-69597420	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs445203	chr4:69597420-69597421	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs553290359	chr4:69597436-69597437	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs58503792	chr4:69597465-69597466	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs535527881	chr4:69597466-69597467	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs392329	chr4:69597493-69597494	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs147538430	chr4:69597510-69597511	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs544437518	chr4:69597512-69597513	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs557766517	chr4:69597524-69597525	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs577824266	chr4:69597556-69597557	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs574138659	chr4:69597560-69597561	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs417730	chr4:69597567-69597568	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs560158869	chr4:69597586-69597587	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs80274467	chr4:69597618-69597619	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs542726676	chr4:69597619-69597620	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs555165251	chr4:69597633-69597634	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs531006246	chr4:69597643-69597644	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs383248	chr4:69597648-69597649	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs188657359	chr4:69597650-69597651	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs533641322	chr4:69597680-69597681	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs35543506	chr4:69597693-69597694	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs541273470	chr4:69597694-69597695	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs60952764	chr4:69597708-69597709	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs563998158	chr4:69597709-69597710	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs68069589	chr4:69597710-69597711	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs446263	chr4:69597790-69597791	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs566507145	chr4:69597844-69597845	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs76630638	chr4:69597849-69597850	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs535491980	chr4:69597909-69597910	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs147306619	chr4:69597961-69597962	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs569057765	chr4:69597985-69597986	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs111527163	chr4:69598006-69598007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs148766431	chr4:69598039-69598040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577779133	chr4:69598101-69598102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs141693232	chr4:69598130-69598131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567090944	chr4:69598139-69598140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373365377	chr4:69598157-69598158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs397749568	chr4:69598169-69598170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142572673	chr4:69598211-69598212	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Graft versus host disease	20877625	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Osteoporosis	20877625	CNVD
Osteoporosis	19737800	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Glioblastoma multiforme	21138945	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Oral cancer	21386901	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69590800-69601000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:69596000-69598000	ZNF genes & repeats	Fetal Intestine Small	intestine
3	chr4:69596200-69599800	Enhancers	HepG2	liver
4	chr4:69596600-69600800	Weak transcription	Pancreas	Pancrea
5	chr4:69597400-69598000	Enhancers	Fetal Intestine Large	intestine
6	chr4:69597800-69598200	Enhancers	Liver	Liver
7	chr4:69598000-69598400	Weak transcription	Fetal Intestine Small	intestine
8	chr4:69598000-69599600	Weak transcription	Fetal Intestine Large	intestine
9	chr4:69598200-69598400	Enhancers	A549	lung
10	chr4:69598200-69598800	Flanking Active TSS	Liver	Liver
11	chr4:69598400-69598600	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr4:69598400-69598800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:69598400-69598800	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr4:69598400-69599000	Active TSS	A549	lung
15	chr4:69598400-69599200	Enhancers	Fetal Intestine Small	intestine
16	chr4:69598600-69599000	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr4:69598600-69599200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:69598600-69599200	Enhancers	Fetal Heart	heart
19	chr4:69598600-69599600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr4:69598800-69599000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:69598800-69599000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr4:69598800-69599000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
23	chr4:69598800-69599200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr4:69598800-69599200	Enhancers	Liver	Liver
25	chr4:69598800-69599200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr4:69599000-69599800	Enhancers	Fetal Kidney	kidney
27	chr4:69599000-69600000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr4:69599000-69600000	Active TSS	Duodenum Mucosa	Duodenum
29	chr4:69599000-69600200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:69599000-69600200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
31	chr4:69599000-69600600	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr4:69599000-69601000	Enhancers	A549	lung
33	chr4:69599000-69603000	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr4:69599200-69599600	Flanking Active TSS	Liver	Liver
35	chr4:69599200-69600000	Weak transcription	Fetal Intestine Small	intestine
36	chr4:69599200-69602800	Enhancers	Stomach Mucosa	stomach

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